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Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


Update (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. 


The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

 
An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
 

The genome-wide association study (GWAS) publications in the Catalog include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

 

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
Platform
[SNPs passing QC]
CNV
12/10/14 Shin SY
May 11, 2014
Nat Genet
An atlas of genetic influences on human blood metabolites.
Blood metabolite levels 7,824 European ancestry individuals NA View full set of 245 SNPs Illumina & Affymetrix
[2.1 million] Imputed
N
22q11.21 PRODH DGCR5 rs2540641-A intron 0.08 3 x 10-59 (proline) .063 [0.055-0.071] unit increase
22q11.21 COMT COMT; MIR4761 rs4680-A missense;nearGene-5 0.51 5 x 10-178 (X-11593--O-methylascorbate) .049 [0.045-0.053] unit decrease
4q35.2 KLKB1 KLKB1 rs4253311-A intron 0.49 4 x 10-48 (bradykinin, des-arg(9)) .141 [0.12-0.16] unit decrease
6q25.3 SLC22A1 SLC22A1 rs662138-C intron 0.83 5 x 10-49 (isobutyrylcarnitine) .077 [0.067-0.087] unit increase
6q25.3 SLC22A1 SLC22A2 rs316019-A missense 0.09 2 x 10-259 (X-12798) .181 [0.17-0.19] unit decrease
7q22.1 CYP3A5 ZKSCAN5 - FAM200A rs10278040-A 0.04 9 x 10-113 (androsterone sulfate) .361 [0.33-0.39] unit decrease
7q22.1 CYP3A5 ZNF655 rs11974702-A intron 0.91 3 x 10-75 (epiandrosterone sulfate) .184 [0.16-0.2] unit increase
7q22.1 CYP3A5 ZSCAN25 rs10242455-A intron 0.93 2 x 10-109 (X-12063) .221 [0.2-0.24] unit increase
7q22.1 ZCWPW1 ZCWPW1 rs13222543-T intron 0.02 7 x 10-74 (androsterone sulfate) .477 [0.43-0.53] unit decrease
7q22.1 ZCWPW1 ZCWPW1 rs13222543-T intron 0.02 3 x 10-47 (epiandrosterone sulfate) .347 [0.3-0.39] unit decrease
12/10/14 " Blood metabolite ratios Up to 5,591 European ancestry individuals Up to 1,767 European ancestry individuals View full set of 54 SNPs Illumina & Affymetrix
[2.1 million] Imputed
N
12p12.1 SLCO1B1 SLCO1B1 rs4149056-T missense 0.82 6 x 10-328 (isoleucine/X-11529) .3 [0.28-0.32] unit increase
1p31.1 ACADM RPL29P5 - ACADM rs4949874-T 0.7 2 x 10-172 (acetylcarnitine/hexanoylcarnitine) .073 [0.067-0.079] unit decrease
11q12.2 FADS1 FADS1 rs174548-C intron 0.7 2 x 10-361 (arachidonate (20:4n6)/dihomo-linolenate (20:3n3 or n6)) .071 [0.067-0.075] unit increase
10q24.31 SCD PKD2L1 rs603424-A intron 0.18 1 x 10-115 (myristate (14:0)/myristoleate (14:1n5)) .054 [0.05-0.058] unit increase
10q21.2 SLC16A9 SLC16A9 rs1171615-T intron 0.78 2 x 10-95 (carnitine/X-12798) .077 [0.069-0.085] unit increase
8p22 NAT2 NAT2 - PSD3 rs4921913-T 0.78 3 x 10-47 (4-acetamidobutanoate/N1-methyladenosine) .036 [0.03-0.042] unit decrease
7q22.1 ZCWPW1 ZCWPW1 rs13222543-T intron 0.02 4 x 10-104 (androsterone sulfate/4-androsten-3beta,17beta-diol disulfate 2) .49 [0.44-0.54] unit decrease
7q22.1 CYP3A5 ZNF655 - GS1-259H13.2 rs7809615-T 0.09 8 x 10-139 (androsterone sulfate/4-androsten-3beta,17beta-diol disulfate 2) .249 [0.23-0.27] unit decrease
6q25.3 SLC22A1 SLC22A2 rs316020-A intron 0.09 3 x 10-286 (X-12798/phenylalanine) .183 [0.17-0.19] unit decrease
19q13.33 SULT2A1 SULT2A1 rs2547231-A intron 0.83 3 x 10-191 (X-11440/4-androsten-3beta,17beta-diol disulfate 2) .141 [0.13-0.15] unit increase




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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015